EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category  |
Confidence Level |
|---|
   3.1.3.56 | Cataract |
33060052 |
The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions. |
causal interaction |
4 |
| 3.1.3.56 | Cataract |
33792664 |
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. |
causal interaction |
4 |
| 3.1.3.56 | Genetic Diseases, Inborn |
23389333 |
Novel OCRL mutations in Chinese children with Lowe syndrome. |
causal interaction |
4 |
| 3.1.3.56 | Glioma |
25476455 |
Inositol Polyphosphate-5-Phosphatase F (INPP5F) inhibits STAT3 activity and suppresses gliomas tumorigenicity. |
causal interaction |
4 |
| 3.1.3.56 | inositol-polyphosphate 5-phosphatase deficiency |
2567894 |
Inositol 1,4,5-trisphosphate phosphatase deficiency and malignant hyperpyrexia in swine. |
causal interaction |
3 |
| 3.1.3.56 | Intellectual Disability |
33193651 |
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy. |
causal interaction |
4 |
| 3.1.3.56 | Intellectual Disability |
28190456 |
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. |
causal interaction |
4 |
| 3.1.3.56 | Intellectual Disability |
28190459 |
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. |
causal interaction |
3 |
| 3.1.3.56 | Intellectual Disability |
28940338 |
INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family. |
causal interaction |
4 |
| 3.1.3.56 | Intellectual Disability |
33060052 |
The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions. |
causal interaction |
4 |
